Xie Li-jian, Huang Guo-ying, Zhao Xiao-qing, Shen Yuan, Zhou Guo-min
Pediatric Heart Center, Children's Hospital, Fudan University, Shanghai 200032, China.
Zhonghua Yi Xue Za Zhi. 2005 May 18;85(18):1249-51.
To investigate the characteristics of heart morphology in neonatal mice with connexin43 gene defects.
Two mouse lines were used in this study, which included connexin43 knockout (Cx43KO) mice and CMV43(CT) transgenic mice. PCR analysis was carried out to identify the genotypes of two transgenic mice. Sections with HE staining were analyzed to display the morphologic structures of the hearts in neonatal mice. C57BL6/SJ mice were used as control.
All 11 homozygous Cx43KO mice died within 24 hr after birth showing severe right ventricular outflow tract obstruction (RVOTO). Out of 20 homozygous CMV43(CT) transgenic mice, 12 mice died within 48 hr after birth showing not only RVOTO, but also atrial septal defect (ASD), ventricular septal defect (VSD) and other cardiac defects, while the remaining 8 mice were alive without heart defects. Both heterozygous Cx43KO and CMV43(CT) transgenic mice had normal hearts.
Connexin43 gene defect is obviously associated with abnormal heart morphogenesis. The different types and different dosage of the gene defects may lead to different phenotypes of hearts.
研究连接蛋白43基因缺陷的新生小鼠心脏形态特征。
本研究使用了两种小鼠品系，包括连接蛋白43基因敲除（Cx43KO）小鼠和CMV43(CT)转基因小鼠。进行PCR分析以鉴定两种转基因小鼠的基因型。对苏木精-伊红（HE）染色切片进行分析，以显示新生小鼠心脏的形态结构。以C57BL6/SJ小鼠作为对照。
所有11只纯合Cx43KO小鼠在出生后24小时内死亡，表现出严重的右心室流出道梗阻（RVOTO）。20只纯合CMV43(CT)转基因小鼠中，12只在出生后48小时内死亡，不仅表现出RVOTO，还伴有房间隔缺损（ASD）、室间隔缺损（VSD）和其他心脏缺陷，而其余8只小鼠存活且无心脏缺陷。杂合Cx43KO和CMV43(CT)转基因小鼠的心脏均正常。
连接蛋白43基因缺陷明显与心脏形态发生异常有关。基因缺陷的不同类型和不同剂量可能导致心脏出现不同的表型。
